Canonical Allele Identifier: CA718683001

Gene: HAGH

Linked Data

• dbSNP Id: rs1473244967
• gnomAD v3: 16-1814089-C-CT
• gnomAD v4: 16-1814089-C-CT
• MyVariant Identifiers: chr16:g.1864090_1864091insT (hg19) ; chr16:g.1814089_1814090insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1814092dup , CM000678.2:g.1814092dup	GRCh38
NC_000016.9:g.1864093dup , CM000678.1:g.1864093dup	GRCh37
NC_000016.8:g.1804094dup	NCBI36
NG_023249.1:g.18105dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397356.8:c.747+2803dup MANE Select	ENSP00000380514.3:n.747+2803dup
ENST00000397353.6:c.603+2803dup	ENSP00000380511.2:n.603+2803dup
ENST00000397356.7:c.747+2803dup	ENSP00000380514.3:n.747+2803dup
ENST00000455446.6:c.638+2803dup	ENSP00000406552.2:n.638+2803dup
ENST00000564445.5:c.538+2803dup
ENST00000566644.5:c.15+2803dup	ENSP00000457986.1:n.15+2803dup
ENST00000566709.5:c.603+2803dup	ENSP00000455422.1:n.603+2803dup
NM_001040427.1:c.603+2803dup	NP_001035517.1:n.603+2803dup
NM_001286249.1:c.638+2803dup	NP_001273178.1:n.638+2803dup
NM_005326.4:c.747+2803dup	NP_005317.2:n.747+2803dup
XM_011522469.1:c.747+2803dup	XP_011520771.1:n.747+2803dup
XM_011522470.1:c.638+2803dup	XP_011520772.1:n.638+2803dup
NM_001040427.2:c.603+2803dup	NP_001035517.1:n.603+2803dup
NM_001286249.2:c.638+2803dup	NP_001273178.1:n.638+2803dup
NM_001363912.1:c.747+2803dup	NP_001350841.1:n.747+2803dup
NM_001363914.1:c.603+2803dup	NP_001350843.1:n.603+2803dup
NM_005326.5:c.747+2803dup	NP_005317.2:n.747+2803dup
XM_011522470.3:c.638+2803dup	XP_011520772.1:n.638+2803dup
XM_024450249.1:c.494+2803dup	XP_024306017.1:n.494+2803dup
NM_005326.6:c.747+2803dup MANE Select	NP_005317.2:n.747+2803dup